The Avon Longitudinal Study of Parents and Children: An international resource for population
genomics and lifecourse epidemiology. Core Programme Support 2011-2015 and Core programme support 2014-2019

Abstract

For over 20 years Children of the 90s (or ALSPAC) has charted the health of 14,500 parents andchildren. Now in its third decade it has started to study the next generation, the children of theChildren of the 90s. The study is unequalled by other population studies because of the breadthand depth of information it holds on participants from before birth over 20 years ago through to thepresent day. It is internationally renowned and used by researchers worldwide. The data allowresearchers to study key periods of development, how certain conditions develop and change overtime and are passed (or not) from one generation to the next, and how health is affected by theinterplay between genes and other factors like smoking, where people live and the job they do.Our goals are to ensure the resource remains sustainable and open to researchers to use, andthat participants remain engaged. We will continue to gather information from the original childrenthrough clinical assessments, questionnaires and record linkage, and will be recruiting andgathering data on the children of the children as well as merging genetic data and enhancing research in the exciting new field of epigenomics.

Technical Summary

The Avon Longitudinal Study of Parents and Children (ALSPAC) is a prospective cohort study withunprecedented scope and detail of information on thousands of people from before birth throughto early adulthood, on their parents and now on their children. It is an internationally valuedresource at the forefront of population-based research. ALSPAC allows the investigation ofdevelopmental trajectories marking critical periods in human life, the genetic and epigeneticfactors contributing to health and disease and the environmental exposures which form the contextwithin which these processes act. As ALSPAC participants enter adulthood and start havingchildren, the study's potential to contribute to scientific discovery is expanding, giving a greatercapacity to explore links between current and future health and the intergenerational componentsof health and disease. ALSPAC is unequivocally the richest open-access epidemiological resourcein the world. Our goals are to ensure that ALSPAC (i) is sustained, (ii) has participation maximisedand (iii) is enhanced. These goals will be delivered by follow-up of the original cohort through clinicassessment, questionnaires and record linkage, data collection on their children, consolidation ofGWAS data on all participants and the development of epigenomics research.

The research features in 'Bullying', a textbook in the 'Issues' series by Independence Educational Publishers http://www.independence.co.uk/. It is in a format that is accessible to all levels but is aimed primarily at the 16-18 age group. According to the publisher, the book is used in a wide variety of courses including GCSE, A-level and further education, as well as by public libraries, prison education providers, government agencies and professional health and social care bodies.

The research features in 'Bullying', a textbook in the 'Issues' series by Independence Educational Publishers http://www.independence.co.uk/. It is in a format that is accessible to all levels but is aimed primarily at the 16-18 age group. According to the publisher, the book is used in a wide variety of courses including GCSE, A-level and further education, as well as by public libraries, prison education providers, government agencies and professional health and social care bodies.

At the request of the funders a number of salaries related to data provision are now recovered directly from external researchers who pay a variable amount (depending on the amount and type of data) to access ALSPAC data

Type Of Material

Improvements to research infrastructure

Provided To Others?

No

Impact

Cost recovery income is monitored very closely - currently the model is not bringing in sufficient income. It will be reassessed at the end of year 1.

Title

Metadata: Variable catalogue

Description

Improved metadata provision - a simple list of variables available so that researchers can simply copy and paste in order to provide lists of variables as part of their data request under cost recovery

Bespoke software development allowing study participants to book appointments online to attend the clinical assessment

Type Of Material

Improvements to research infrastructure

Provided To Others?

No

Impact

Improved participant experience

Title

Online proposal for data access system

Description

Bespoke software development where researchers can enter details of new proposals to access ALSPAC data, system processes these and logs all relevant supporting information and agreements together (see https://proposals.epi.bristol.ac.uk/)

Type Of Material

Improvements to research infrastructure

Provided To Others?

No

Impact

Improved system providing speedier access to ALSPAC data. We have been approached by other research groups interested in using this system and we are exploring options around how we might make this available to others.

Successful development of an effective online questionnaire system used by participants to complete ALSPAC questionnaires via the study website

Type Of Material

Improvements to research infrastructure

Provided To Others?

No

Impact

More efficient and cost effective collection of data from research particpants

Title

Protocol for genetic annotation and characterization

Description

We have developed a tool which annotates all genetic variants within a user specified region of the human genome. These annotations are collated from various databases, including information such as (but not limited to) predicted consequence, predicted deleterious impact, trait associations, quantitative trait loci (i.e. expression, methylation, chromatin, metabolomics, proteomics), regulatory information, biological pathways and druggable/trials info.

Type Of Material

Model of mechanisms or symptoms - in vitro

Provided To Others?

No

Impact

As the tool is unreleased there has been no impact yet. However, we intend to share the tool with the French pharmaceutical company Sanofi once it is ready as part of our on-going collaboration.

Title

Providing a genomic teaching resource

Description

Teaching the methods and approaches used in genetic epidemiology is most effective when realistic data is available for students to use. We have scrambled the ALSPAC genetic data in order to preserve the genetic characteristics of the dataset whilst making the data non-disclosive of the participants.

Type Of Material

Improvements to research infrastructure

Provided To Others?

No

Impact

This scrambled dataset has been used in at least six short courses on genetic epidemiology to date, and is continually used to teach students.

Title

Statistical methods for dealing with repeat measures

Description

A number of groups are working on methods for analysing longitudinal data from the study producing both novel methods and building on existing methods to make best use of the repeat measures ALSPAC has. This covers a variety of different types of data and areas of research including growth, risky behaviours, diet and health outcomes

The UK10K Genome Browser is based on the Biodalliance platform (Down et al., Bioinformatics 2011), designed to facilitate the retrieval of genotype-phenotype association results from the UK10K Cohorts Project (Walter et al, Nature 2015), and their visualisation in the context of different annotation features.

Type Of Material

Physiological assessment or outcome measure

Provided To Others?

No

Impact

Allows researchers to easily access key results from the cohort arm of the UK10K and generate new hypothesis based on this dataset